NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)
|
rs1051900223
|
0.00004
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu)
|
rs1173430388
|
0.00001
|
NM_024301.5(FKRP):c.1034G>C (p.Gly345Ala)
|
rs1249694833
|
0.00001
|
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys)
|
rs751676482
|
0.00001
|
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
|
rs772950604
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
|
rs747785577
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)
|
rs990847012
|
0.00001
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)
|
rs104894679
|
0.00001
|
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)
|
rs28937901
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
|
|
|
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
|
|
|
NM_024301.5(FKRP):c.1006_1174del (p.Ala336fs)
|
rs1599938271
|
|
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)
|
rs1173430388
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)
|
|
|
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
|
|
|
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)
|
rs587780334
|
|
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)
|
rs753811189
|
|
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)
|
|
|
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
|
|
|
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)
|
rs1060502109
|
|
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
|
|
|
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
|
|
|
NM_024301.5(FKRP):c.1119del (p.Asn374fs)
|
rs1555739041
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
|
|
|
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)
|
rs28937904
|
|
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
|
rs1599939853
|
|
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
|
|
|
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
|
|
|
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr)
|
rs747785577
|
|
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
|
|
|
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)
|
|
|
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser)
|
rs2122636612
|
|
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)
|
rs2122636612
|
|
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)
|
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)
|
|
|
NM_024301.5(FKRP):c.1475del (p.Thr492fs)
|
rs1555739333
|
|
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)
|
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln)
|
rs2122609879
|
|
NM_024301.5(FKRP):c.170_186dup (p.Val63fs)
|
rs1555738149
|
|
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
|
|
|
NM_024301.5(FKRP):c.206_208del (p.Ser69del)
|
rs2054893955
|
|
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)
|
rs1555738201
|
|
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)
|
rs1555738204
|
|
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs)
|
rs1555738245
|
|
NM_024301.5(FKRP):c.345_349del (p.Arg116fs)
|
rs1555738311
|
|
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)
|
|
|
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
|
|
|
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer)
|
rs886041004
|
|
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
|
|
|
NM_024301.5(FKRP):c.464del (p.Leu155fs)
|
rs1555738456
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)
|
rs1555738483
|
|
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)
|
rs554813030
|
|
NM_024301.5(FKRP):c.511_523del (p.Leu171fs)
|
rs1314297056
|
|
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
|
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
|
|
|
NM_024301.5(FKRP):c.558dup (p.Ala187fs)
|
rs1191737604
|
|
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs)
|
rs1555738568
|
|
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.587G>T (p.Gly196Val)
|
|
|
NM_024301.5(FKRP):c.632del (p.Ser211fs)
|
|
|
NM_024301.5(FKRP):c.656del (p.Gly219fs)
|
rs1555738651
|
|
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)
|
rs28937902
|
|
NM_024301.5(FKRP):c.675del (p.Thr226fs)
|
rs886043706
|
|
NM_024301.5(FKRP):c.686del (p.Arg229fs)
|
rs1555738686
|
|
NM_024301.5(FKRP):c.688_722del (p.Gly230fs)
|
rs1555738675
|
|
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)
|
rs2122621481
|
|
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
|
|
|
NM_024301.5(FKRP):c.738_749del (p.Pro247_Thr250del)
|
rs886044496
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)
|
rs752731569
|
|
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
|
|
|
NM_024301.5(FKRP):c.796del (p.Ala266fs)
|
rs1555738764
|
|
NM_024301.5(FKRP):c.859_869del (p.Phe287fs)
|
rs1555738823
|
|
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)
|
|
|
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)
|
rs2054921636
|
|
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
|
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)
|
rs1483781400
|
|
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
|
|
|
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)
|
|
|
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)
|
rs868138875
|
|
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)
|
|
|
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)
|
rs28937901
|
|
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)
|
rs28937901
|
|
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)
|
rs1555738883
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)
|
|
|